Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.

Abstract excerpt

Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia. However, the gene responsible for this form of anemia remains unclear in about 40% of patients. Here, we identify a novel erythroid-specific enhancer of 130 base pairs in the first intron of the...

Topics

• 5-Aminolevulinate Synthetase
• Anemia, Sideroblastic
• Enhancer Elements, Genetic
• GATA1 Transcription Factor
• Humans
• K562 Cells
• Male
• Mutation
• Response Elements